Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.L2071F

c.6213G>C

Surrounding Variants

1 paper

NM_000051.4

p.L2071F

c.6213G>T

4 papers

NM_000051.4

p.G2072R

c.6214G>A

4 papers

NM_000051.4

p.G2072R

c.6214G>C

1 paper

NM_000051.4

p.G2072*

c.6214G>T

2 papers

NM_000051.4

p.G2072fs

c.6214_6215fs

3 papers

NM_000051.4

p.L2071*

c.6212T>A

2 papers

NM_000051.4

p.G2072delFs

c.6215delG

2 papers

NM_000051.4

p.G2072E

c.6215G>A

1 paper

NM_000051.4

p.G2072A

c.6215G>C

1 paper

NM_000051.4

p.L2071V

c.6211T>G

1 paper

NM_000051.4

p.L2071_G2072ins5

c.6211_6215ins15

1 paper

NM_000051.4

p.L2071fs

c.6211_6212fs