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.K2104R

c.6311A>G

Surrounding Variants

2 papers

NM_006289.4

p.T2098M

c.6293C>T

1 paper

NM_006289.4

p.A2110V

c.6329C>T

2 papers

NM_006289.4

p.K2115E

c.6343A>G

3 papers

NM_006289.4

p.V2087A

c.6260T>C

1 paper

NM_006289.4

p.D2086V

c.6257A>T

1 paper

NM_006289.4

p.Q2077*

c.6229C>T

1 paper

NM_006289.4

p.V2061E

c.6182T>A

1 paper

NM_006289.4

p.R2057H

c.6170G>A

1 paper

NM_006289.4

p.A2053A

c.6159G>A

3 papers

NM_006289.4

p.R2154W

c.6460C>T

1 paper

NM_006289.4

p.Q2046H

c.6138G>T

1 paper

NM_006289.4

p.Q2046H

c.6138G>C