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

3 papers

NM_000051.4

p.D1815N

c.5443G>A

Surrounding Variants

1 paper

NM_000051.4

p.D1815fs

c.5443_5444fs

3 papers

NM_000051.4

p.D1815Y

c.5443G>T

1 paper

NM_000051.4

p.D1815fs

c.5443_5444fs

3 papers

NM_000051.4

p.L1814*

c.5441T>A

4 papers

NM_000051.4

p.D1815delFs

c.5443delG

1 paper

NM_000051.4

p.S1816G

c.5446A>G

2 papers

NM_000051.4

p.L1814fs

c.5440_5441fs

7 papers

NM_000051.4

p.L1814fs

c.5440_5441fs

1 paper

NM_000051.4

p.S1816T

c.5447G>C

1 paper

NM_000051.4

p.F1813L

c.5439T>A

1 paper

NM_000051.4

p.F1813L

c.5439T>G

1 paper

NM_000051.4

p.F1813C

c.5438T>G