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.V526L

c.1576G>T

Surrounding Variants

1 paper

NM_000179.3

p.V526L

c.1576G>C

1 paper

NM_000179.3

p.S525S

c.1575T>C

1 paper

NM_000179.3

p.V526A

c.1577T>C

1 paper

NM_000179.3

p.S525ins1

c.1574_1575insTCA

1 paper

NM_000179.3

p.S525_V526insFs

c.1575_1578dup4

1 paper

NM_000179.3

p.S525G

c.1573A>G

1 paper

NM_000179.3

p.L527fs

c.1579_1580fs

1 paper

NM_000179.3

p.L527V

c.1579C>G

1 paper

NM_000179.3

p.L527L

c.1579C>T

2 papers

NM_000179.3

p.L527delFs

c.1580delT

1 paper

NM_000179.3

p.L527fs

c.1579_1580fs

8 papers

NM_000179.3

p.Y524*

c.1572C>A