Varaico: Literature-Extracted Genetic Variants

TLN1

235 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in...

Pfam Domains

FERM_f0aa 4–83UCSCN-terminal or F0 domain of Talin-head FERM

FERM_Maa 201–313UCSCFERM central domain

IRSaa 313–400UCSCPTB domain (IRS-1 type)

Talin_middleaa 491–652UCSCTalin, middle domain

Talin_IBS2Baa 649–757UCSCTalin IBS2B domain

Talin_VBS2aa 794–909UCSCTalin VBS2 domain

Gene Aliases

HGNC Name

talin 1

HGNC Alias Symbol

ILWEQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006289.4

p.K322E

c.964A>G

Surrounding Variants

1 paper

NM_006289.4

p.K320R

c.959A>G

5 papers

NM_006289.4

p.L325R

c.974T>G

1 paper

NM_006289.4

p.K345E

c.1033A>G

1 paper

NM_006289.4

p.L353F

c.1057C>T

1 paper

NM_006289.4

p.K357Q

c.1069A>C

1 paper

NM_006289.4

p.R358_W359insFs

c.1074_1075insC

1 paper

NM_006289.4

p.A361T

c.1081G>A

1 paper

NM_006289.4

p.A361V

c.1082C>T

1 paper

NM_006289.4

p.S311F

c.932C>T

1 paper

NM_006289.4

p.K306Q

c.916A>C

1 paper

NM_006289.4

p.K300fs

c.898_899fs

1 paper

NM_006289.4

p.K300delFs

c.899delT