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.L694delFs

c.2081_2082delTT

Surrounding Variants

1 paper

NM_000051.4

p.L694insFs

c.2080_2081insA

2 papers

NM_000051.4

p.L694P

c.2081T>C

1 paper

NM_000051.4

p.L694R

c.2081T>G

1 paper

NM_000051.4

p.C693Y

c.2078G>A

3 papers

NM_000051.4

p.L694L

c.2082T>C

1 paper

NM_000051.4

p.L695L

c.2083C>T

2 papers

NM_000051.4

p.L695fs

c.2083_2084fs

2 papers

NM_000051.4

p.L695P

c.2084T>C

7 papers

NM_000051.4

p.R692H

c.2075G>A

2 papers

NM_000051.4

p.R692S

c.2074C>A

10 papers

NM_000051.4

p.R692C

c.2074C>T

4 papers

NM_000051.4

p.G696*

c.2086G>T