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

2 papers

NM_000179.3

p.F1104L

c.3312T>A

Surrounding Variants

1 paper

NM_000179.3

p.F1104L

c.3312T>G

1 paper

NM_000179.3

p.G1105_D1112delFs

c.3313_3334del22

1 paper

NM_000179.3

p.G1105R

c.3313G>A

1 paper

NM_000179.3

p.G1105R

c.3313G>C

6 papers

NM_000179.3

p.G1105fs

c.3313_3314fs

1 paper

NM_000179.3

p.G1105*

c.3313G>T

8 papers

NM_000179.3

p.G1105fs

c.3313_3314fs

3 papers

NM_000179.3

p.G1105E

c.3314G>A

1 paper

NM_000179.3

p.F1104L

c.3310T>C

10 papers

NM_000179.3

p.F1104fs

c.3310_3311fs

16 papers

NM_000179.3

p.F1104fs

c.3310_3311fs

1 paper

NM_000179.3

p.D1107del1

c.3319_3320delGAT