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.Y558N

c.1672T>A

Surrounding Variants

1 paper

NM_023110.3

p.Y558D

c.1672T>G

1 paper

NM_023110.3

p.Y558H

c.1672T>C

1 paper

NM_023110.3

p.L557F

c.1671G>T

1 paper

NM_023110.3

p.L557F

c.1671G>C

1 paper

NM_023110.3

p.L557L

c.1671G>A

1 paper

NM_023110.3

p.Y558F

c.1673A>T

1 paper

NM_023110.3

p.Y558C

c.1673A>G

1 paper

NM_023110.3

p.Y558S

c.1673A>C

1 paper

NM_023110.3

p.Y558*

c.1674T>G

1 paper

NM_023110.3

p.L557W

c.1670T>G

1 paper

NM_023110.3

p.Y558Y

c.1674T>C

1 paper

NM_023110.3

p.L557S

c.1670T>C