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

4 papers

NM_000179.3

p.P343L

c.1028C>T

Surrounding Variants

1 paper

NM_000179.3

p.Q344K

c.1030C>A

1 paper

NM_000179.3

p.Q344E

c.1030C>G

12 papers

NM_000179.3

p.Q344*

c.1030C>T

1 paper

NM_000179.3

p.N345delFs

c.1033_1034delAA

1 paper

NM_000179.3

p.Q344R

c.1031A>G

2 papers

NM_000179.3

p.A342G

c.1025C>G

1 paper

NM_000179.3

p.Q344H

c.1032A>C

1 paper

NM_000179.3

p.Q344H

c.1032A>T

1 paper

NM_000179.3

p.A342T

c.1024G>A

1 paper

NM_000179.3

p.P343delFs

c.1027delC

1 paper

NM_000179.3

p.A342fs

c.1024_1025fs

1 paper

NM_000179.3

p.N345Y

c.1033A>T