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.I651V

c.1951A>G

Surrounding Variants

1 paper

NM_023110.3

p.I651L

c.1951A>C

1 paper

NM_023110.3

p.I651T

c.1952T>C

1 paper

NM_023110.3

p.H650Q

c.1950C>G

1 paper

NM_023110.3

p.H650Q

c.1950C>A

1 paper

NM_023110.3

p.I651M

c.1953C>G

1 paper

NM_023110.3

p.I651I

c.1953C>A

4 papers

NM_023110.3

p.H650L

c.1949A>T

1 paper

NM_023110.3

p.H650R

c.1949A>G

1 paper

NM_023110.3

p.H650P

c.1949A>C

1 paper

NM_023110.3

p.H650delFs

c.1948delG

1 paper

NM_023110.3

p.H649Q

c.1947C>G

1 paper

NM_023110.3

p.H649Q

c.1947C>A