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.M719I

c.2157G>C

Surrounding Variants

1 paper

NM_023110.3

p.M719I

c.2157G>T

1 paper

NM_023110.3

p.M719I

c.2157G>A

1 paper

NM_023110.3

p.M719delFs

c.2156delA

9 papers

NM_023110.3

p.M719R

c.2156T>G

1 paper

NM_023110.3

p.M719L

c.2155A>T

2 papers

NM_023110.3

p.M719V

c.2155A>G

1 paper

NM_023110.3

p.M719L

c.2155A>C

1 paper

NM_023110.3

p.D720delFs

c.2158delC

1 paper

NM_023110.3

p.D720E

c.2160C>G

1 paper

NM_023110.3

p.D720E

c.2160C>A

1 paper

NM_023110.3

p.R718H

c.2153G>A

1 paper

NM_023110.3

p.K721*

c.2161A>T