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.I64N

c.191T>A

Surrounding Variants

1 paper

NM_023110.3

p.I64I

c.192C>A

4 papers

NM_023110.3

p.N65S

c.194A>G

1 paper

NM_023110.3

p.R58_Q62del0

c.172_186del15

1 paper

NM_023110.3

p.W66L

c.197G>T

1 paper

NM_023110.3

p.W66*

c.197G>A

1 paper

NM_023110.3

p.L57_Q62del0

c.170_184del15

1 paper

NM_023110.3

p.W66*

c.198G>A

1 paper

NM_023110.3

p.V61M

c.181G>A

1 paper

NM_023110.3

p.D60_V61delins

c.180_181delinsAA

1 paper

NM_023110.3

p.R68W

c.202C>T

1 paper

NM_001174067.2

p.R101L

c.302G>T

1 paper

NM_023110.3

p.R68P

c.203G>C