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.Q2314H

c.6942A>C

Surrounding Variants

1 paper

NM_000051.4

p.Q2314H

c.6942A>T

1 paper

NM_000051.4

p.M2315fs

c.6943_6944fs

1 paper

NM_000051.4

p.Q2314R

c.6941A>G

1 paper

NM_000051.4

p.Q2314delFs

c.6942delA

1 paper

NM_000051.4

p.M2315T

c.6944T>C

2 papers

NM_000051.4

p.M2315I

c.6945G>A

2 papers

NM_000051.4

p.M2315I

c.6945G>C

2 papers

NM_000051.4

p.M2315I

c.6945G>T

1 paper

NM_000051.4

p.K2313fs

c.6937_6938fs

1 paper

NM_000051.4

p.I2316M

c.6948C>G

4 papers

NM_000051.4

p.K2317_K2318delFs

c.6951_6952delGA

3 papers

NM_000051.4

p.L2312P

c.6935T>C