Varaico: Literature-Extracted Genetic Variants

FGFR3

3,257 papers

RefSeq Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members ...

Pfam Domains

I-setaa 159–245UCSCImmunoglobulin I-set domain

Ig_3aa 252–343UCSCImmunoglobulin domain

FGFR3_TMaa 372–397UCSCFibroblast growth factor receptor 3 transmembrane domain

PK_Tyr_Ser-Thraa 472–748UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 3

HGNC Previous Symbol

ACH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000142.5

p.K650*

c.1948A>T

Surrounding Variants

88 papers

NM_000142.5

p.K650Q

c.1948A>C

NM_001163213.2

p.K652Q

c.1954A>C

407 papers

NM_000142.5

p.K650E

c.1948A>G

NM_022965.4

p.K538E

c.1612A>G

NM_001163213.2

p.K652E

c.1954A>G

81 papers

NM_000142.5

p.K650T

c.1949A>C

NM_001163213.2

p.K652T

c.1955A>C

5 papers

NM_000142.5

p.K650R

c.1949A>G

190 papers

NM_000142.5

p.K650M

c.1949A>T

NM_001163213.2

p.K652M

c.1955A>T

2 papers

NM_001163213.2

p.K651K

c.1953G>A

1 paper

NM_000142.5

p.K649R

c.1946A>G

2 papers

NM_001163213.2

p.K652K

c.1956G>A

NM_001354809.2

p.K651K

c.1953G>A

NM_000142.5

p.K650K

c.1950G>A

75 papers

NM_000142.5

p.K650N

c.1950G>C

74 papers

NM_000142.5

p.K650N

c.1950G>T

1 paper

NM_000142.5

p.T651P

c.1951A>C

2 papers

NM_000142.5

p.T651A

c.1951A>G