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

16 papers

NM_000179.3

p.R1095C

c.3283C>T

Surrounding Variants

23 papers

NM_000179.3

p.R1095H

c.3284G>A

1 paper

NM_000179.3

p.R1095P

c.3284G>C

3 papers

NM_000179.3

p.H1096Y

c.3286C>T

1 paper

NM_000179.3

p.S1094delFs

c.3281delC

1 paper

NM_000179.3

p.H1096R

c.3287A>G

1 paper

NM_000179.3

p.G1093V

c.3278G>T

1 paper

NM_000179.3

p.P1097A

c.3289C>G

1 paper

NM_000179.3

p.G1093R

c.3277G>A

1 paper

NM_000179.3

p.G1093R

c.3277G>C

1 paper

NM_000179.3

p.P1097L

c.3290C>T

3 papers

NM_000179.3

p.K1092*

c.3274A>T

1 paper

NM_000179.3

p.C1098Y

c.3293G>A