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.R646L

c.1937G>T

Surrounding Variants

3 papers

NM_023110.3

p.R646W

c.1936C>T

1 paper

NM_023110.3

p.R646G

c.1936C>G

1 paper

NM_023110.3

p.D647Y

c.1939G>T

1 paper

NM_015850.4

p.D645H

c.1933G>C

5 papers

NM_023110.3

p.D647N

c.1939G>A

5 papers

NM_023110.3

p.A645V

c.1934C>T

2 papers

NM_023110.3

p.D647V

c.1940A>T

1 paper

NM_023110.3

p.A645T

c.1933G>A

1 paper

NM_023110.3

p.D647D

c.1941C>T

1 paper

NM_023110.3

p.D647E

c.1941C>G

1 paper

NM_023110.3

p.D647E

c.1941C>A

1 paper

NM_023110.3

p.I648S

c.1943T>G