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

2 papers

NM_000051.4

p.G2063*

c.6187G>T

Surrounding Variants

1 paper

NM_000051.4

p.G2063R

c.6187G>A

1 paper

NM_000051.4

p.G2063R

c.6187G>C

1 paper

NM_000051.4

p.G2063_I2064insT

c.6187_6191ins3

19 papers

NM_000051.4

p.G2063E

c.6188G>A

1 paper

NM_000051.4

p.G2063A

c.6188G>C

3 papers

NM_000051.4

p.G2063V

c.6188G>T

1 paper

NM_000051.4

p.A2062E

c.6185C>A

5 papers

NM_000051.4

p.A2062V

c.6185C>T

5 papers

NM_000051.4

p.Q2061*

c.6181C>T

3 papers

NM_000051.4

p.I2065T

c.6194T>C

10 papers

NM_000051.4

p.R2060H

c.6179G>A

1 paper

NM_000051.4

p.R2060P

c.6179G>C