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.V907delFs

c.2721delA

Surrounding Variants

1 paper

NM_000179.3

p.V907A

c.2720T>C

2 papers

NM_000179.3

p.L909_N910delFs

c.2725_2729del5

1 paper

NM_000179.3

p.V907L

c.2719G>C

1 paper

NM_000179.3

p.V907fs

c.2719_2720fs

1 paper

NM_000179.3

p.V907L

c.2719G>T

1 paper

NM_000179.3

p.V907delFs

c.2720_2721delTA

1 paper

NM_000179.3

p.V907fs

c.2719_2720fs

2 papers

NM_000179.3

p.E908K

c.2722G>A

7 papers

NM_000179.3

p.E908*

c.2722G>T

1 paper

NM_000179.3

p.E908fs

c.2722_2723fs

1 paper

NM_000179.3

p.V907delFs

c.2719delG

1 paper

NM_000179.3

p.T906I

c.2717C>T