Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.H541D

c.1621C>G

Surrounding Variants

1 paper

NM_023110.3

p.H541Y

c.1621C>T

1 paper

NM_023110.3

p.H541N

c.1621C>A

1 paper

NM_023110.3

p.K540N

c.1620G>T

1 paper

NM_023110.3

p.K540N

c.1620G>C

1 paper

NM_023110.3

p.K540K

c.1620G>A

1 paper

NM_023110.3

p.H541L

c.1622A>T

1 paper

NM_023110.3

p.H541R

c.1622A>G

2 papers

NM_023110.3

p.H541P

c.1622A>C

1 paper

NM_023110.3

p.H541Q

c.1623T>G

1 paper

NM_023110.3

p.H541H

c.1623T>C

1 paper

NM_023110.3

p.H541Q

c.1623T>A

1 paper

NM_023110.3

p.K540M

c.1619A>T