Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_000179.3

p.P42S

c.124C>T

Surrounding Variants

1 paper

NM_000179.3

p.P42insFs

c.124_125ins8

1 paper

NM_000179.3

p.P42A

c.124C>G

1 paper

NM_000179.3

p.P42fs

c.124_125fs

1 paper

NM_000179.3

p.P42H

c.125C>A

1 paper

NM_000179.3

p.P42insFs

c.125_126insT

1 paper

NM_000179.3

p.P42L

c.125C>T

2 papers

NM_000179.3

p.S41Y

c.122C>A

1 paper

NM_000179.3

p.S41C

c.122C>G

8 papers

NM_000179.3

p.S41F

c.122C>T

1 paper

NM_000179.3

p.S43_P44del2

c.127_131del6

1 paper

NM_000179.3

p.S43fs

c.127_128fs

1 paper

NM_000179.3

p.A40A

c.120C>A