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

1 paper

NM_000179.3

p.P1077S

c.3229C>T

Surrounding Variants

1 paper

NM_000179.3

p.P1077fs

c.3229_3230fs

1 paper

NM_000179.3

p.P1077R

c.3230C>G

3 papers

NM_000179.3

p.P1077P

c.3231A>G

14 papers

NM_000179.3

p.R1076H

c.3227G>A

1 paper

NM_000179.3

p.P1077delFs

c.3230delC

1 paper

NM_000179.3

p.R1076S

c.3226C>A

1 paper

NM_000179.3

p.R1076_P1077insT

c.3226_3230ins3

3 papers

NM_000179.3

p.R1076G

c.3226C>G

90 papers

NM_000179.3

p.R1076C

c.3226C>T

2 papers

NM_000179.3

p.V1078L

c.3232G>C

2 papers

NM_000179.3

p.V1078L

c.3232G>T

1 paper

NM_000179.3

p.V1078E

c.3233T>A